Variant report

Variant	rs8012325
Chromosome Location	chr14:31163413-31163414
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10131166	0.80[EUR][1000 genomes]
rs10141944	0.80[EUR][1000 genomes]
rs1113946	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11156637	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1123860	0.81[EUR][1000 genomes]
rs11622076	0.80[EUR][1000 genomes]
rs11622786	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11623154	0.80[EUR][1000 genomes]
rs11627421	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11846293	0.80[EUR][1000 genomes]
rs11846408	0.80[EUR][1000 genomes]
rs11851205	0.80[EUR][1000 genomes]
rs12586678	0.84[AMR][1000 genomes]
rs12888568	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs142983	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17097023	0.81[EUR][1000 genomes]
rs17097130	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17097160	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038451	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273520	0.80[EUR][1000 genomes]
rs229164	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35069045	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3736773	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3825740	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4399466	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59856095	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61976712	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61976741	0.82[AMR][1000 genomes]
rs6571356	0.80[EUR][1000 genomes]
rs6571357	0.80[EUR][1000 genomes]
rs7493549	0.80[EUR][1000 genomes]
rs761956	0.86[AMR][1000 genomes]
rs8009427	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8019637	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31096000-31167400	Weak transcription	Gastric	stomach
2	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
3	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
5	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
8	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
11	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
12	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
13	chr14:31134200-31167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:31141600-31167400	Weak transcription	Psoas Muscle	Psoas
15	chr14:31142200-31164800	Weak transcription	Fetal Intestine Small	intestine
16	chr14:31146600-31165600	Weak transcription	Brain Germinal Matrix	brain
17	chr14:31146600-31165600	Weak transcription	Fetal Thymus	thymus
18	chr14:31149400-31164000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:31150000-31166800	Weak transcription	Fetal Lung	lung
20	chr14:31152800-31164600	Weak transcription	Lung	lung
21	chr14:31152800-31165800	Weak transcription	NHLF	lung
22	chr14:31153000-31164000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:31153000-31164400	Weak transcription	Ovary	ovary
24	chr14:31153000-31164600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:31153200-31165600	Weak transcription	Spleen	Spleen
26	chr14:31153400-31164800	Weak transcription	Primary T cells from cord blood	blood
27	chr14:31153400-31169000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:31153600-31163600	Weak transcription	Primary B cells from cord blood	blood
29	chr14:31153600-31163600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:31153600-31163800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:31153600-31163800	Weak transcription	Osteobl	bone
32	chr14:31153600-31164000	Weak transcription	NH-A	brain
33	chr14:31153600-31164400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:31153600-31164600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:31153600-31165600	Weak transcription	K562	blood
36	chr14:31153600-31166000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:31153600-31166600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:31153600-31166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:31153600-31167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:31153600-31174400	Weak transcription	NHDF-Ad	bronchial
41	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:31153800-31163600	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:31153800-31164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:31153800-31164600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:31153800-31165600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:31153800-31165600	Weak transcription	Dnd41	blood
47	chr14:31153800-31166200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:31153800-31166400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
50	chr14:31160000-31163800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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